congenital myasthenic syndrome 12

Term ID

DOID:0110660

Synonyms

• CMS12
• congenital myasthenia 12 with tubular aggregates

Definition

A congenital myasthenic syndrome characterized by autosomal recessive inheritance of onset of proximal muscle weakness in the first decade that generally responds well to acetylcholinesterase inhibitor treatment that has_material_basis_in homozygous or compound heterozygous mutation in the GFPT1 gene on chromosome 2p13. (2)

References

• MIM:610542

Ontology

Human Disease   ( DOID:0110660 )